The global nephrology community recognises the need for a cohesive plan to address the
problem of chronic kidney disease (CKD). In July, 2016, the International Society of …

Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

Abstract Germline SAMD9 and SAMD9L mutations (SAMD9/9L mut) predispose to
myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we …

Whole exome sequencing has been increasingly used in human disease studies.
Prioritization based on appropriate functional annotations has been used as an …

The vast majority of coding variants are rare, and assessment of the contribution of rare
variants to complex traits is hampered by low statistical power and limited functional data …

Uncovering the genetic and evolutionary basis of local adaptation is a major focus of
evolutionary biology. The recent development of cost-effective methods for obtaining high …

We discuss new approaches to the early detection of keratoconus and recent investigations
regarding the nature of its pathophysiology. We review the current evidence for its complex …

Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …

Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their
risk effects are highly variable, and they are frequently related to other conditions besides …

Solute carrier (SLC) transporters—a family of more than 300 membrane-bound proteins that
facilitate the transport of a wide array of substrates across biological membranes—have …